nsv3914068
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:9,199,008
- Description:GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 25149 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 25148 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 7061 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914068 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 4,068,792 | 13,267,799 |
| nsv3914068 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 4,069,026 | 13,268,031 |
| nsv3914068 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 4,014,025 | 13,376,010 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135266 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136132.6, VCV000146906.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135266 | Submitted genomic | NC_000006.12:g.(?_ 4068792)_(13267799 _?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 4,068,792 | 13,267,799 |
| nssv15135266 | Submitted genomic | NC_000006.11:g.(?_ 4069026)_(13268031 _?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 4,069,026 | 13,268,031 |
| nssv15135266 | Submitted genomic | NC_000006.10:g.(?_ 4014025)_(13376010 _?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 4,014,025 | 13,376,010 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135266 | GRCh37: NC_000006.11:g.(?_4069026)_(13268031_?)del, GRCh38: NC_000006.12:g.(?_4068792)_(13267799_?)del, NCBI36: NC_000006.10:g.(?_4014025)_(13376010_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136132.6, VCV000146906.2 | 1 |